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Gene: NIPBL |
Gene summary for NIPBL |
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Gene information | Species | Human | Gene symbol | NIPBL | Gene ID | 25836 |
Gene name | NIPBL cohesin loading factor | |
Gene Alias | CDLS | |
Cytomap | 5p13.2 | |
Gene Type | protein-coding | GO ID | GO:0000003 | UniProtAcc | Q6KC79 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
25836 | NIPBL | CA_HPV_1 | Human | Cervix | CC | 1.37e-04 | -2.30e-02 | 0.0264 |
25836 | NIPBL | CCI_1 | Human | Cervix | CC | 9.89e-10 | 1.17e+00 | 0.528 |
25836 | NIPBL | CCI_2 | Human | Cervix | CC | 4.93e-14 | 1.43e+00 | 0.5249 |
25836 | NIPBL | CCI_3 | Human | Cervix | CC | 7.15e-22 | 1.54e+00 | 0.516 |
25836 | NIPBL | L1 | Human | Cervix | CC | 3.45e-02 | -2.24e-01 | 0.0802 |
25836 | NIPBL | HTA11_3410_2000001011 | Human | Colorectum | AD | 2.54e-22 | -5.55e-01 | 0.0155 |
25836 | NIPBL | HTA11_2487_2000001011 | Human | Colorectum | SER | 7.15e-08 | -5.15e-01 | -0.1808 |
25836 | NIPBL | HTA11_2951_2000001011 | Human | Colorectum | AD | 3.09e-06 | -9.36e-01 | 0.0216 |
25836 | NIPBL | HTA11_347_2000001011 | Human | Colorectum | AD | 2.04e-02 | 3.42e-01 | -0.1954 |
25836 | NIPBL | HTA11_3361_2000001011 | Human | Colorectum | AD | 7.59e-05 | -6.33e-01 | -0.1207 |
25836 | NIPBL | HTA11_5212_2000001011 | Human | Colorectum | AD | 2.95e-05 | -6.37e-01 | -0.2061 |
25836 | NIPBL | HTA11_7862_2000001011 | Human | Colorectum | AD | 8.56e-04 | -5.34e-01 | -0.0179 |
25836 | NIPBL | HTA11_866_3004761011 | Human | Colorectum | AD | 9.82e-07 | -5.06e-01 | 0.096 |
25836 | NIPBL | HTA11_4255_2000001011 | Human | Colorectum | SER | 1.75e-02 | -4.71e-01 | 0.0446 |
25836 | NIPBL | HTA11_8622_2000001021 | Human | Colorectum | SER | 3.33e-03 | -5.94e-01 | 0.0528 |
25836 | NIPBL | HTA11_10711_2000001011 | Human | Colorectum | AD | 1.04e-08 | -5.15e-01 | 0.0338 |
25836 | NIPBL | HTA11_7696_3000711011 | Human | Colorectum | AD | 4.25e-11 | -4.70e-01 | 0.0674 |
25836 | NIPBL | HTA11_7469_2000001011 | Human | Colorectum | AD | 1.52e-02 | -8.13e-01 | -0.0124 |
25836 | NIPBL | HTA11_11156_2000001011 | Human | Colorectum | AD | 3.91e-03 | -7.98e-01 | 0.0397 |
25836 | NIPBL | HTA11_6818_2000001021 | Human | Colorectum | AD | 4.22e-02 | -4.12e-01 | 0.0588 |
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∗log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage. |
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Malignant transformation related pathway analysis |
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Tissue | Disease Stage | Enriched GO biological Processes |
Colorectum | AD | ![]() |
Colorectum | SER | ![]() |
Colorectum | MSS | ![]() |
Colorectum | MSI-H | ![]() |
Colorectum | FAP | ![]() |
∗Top 15 enriched GO BP terms are showed in the bar plot of each disease state in each tissue. Each row represents a significant GO biological process which is colored according to the -log10(p.adjust). |
Page: 1 2 3 4 5 6 7 8 9 |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00725949 | Cervix | CC | establishment of protein localization to organelle | 99/2311 | 422/18723 | 1.23e-10 | 2.11e-08 | 99 |
GO:00614588 | Cervix | CC | reproductive system development | 87/2311 | 427/18723 | 1.37e-06 | 4.55e-05 | 87 |
GO:00486088 | Cervix | CC | reproductive structure development | 86/2311 | 424/18723 | 1.90e-06 | 5.97e-05 | 86 |
GO:00454445 | Cervix | CC | fat cell differentiation | 53/2311 | 229/18723 | 3.72e-06 | 9.75e-05 | 53 |
GO:00712148 | Cervix | CC | cellular response to abiotic stimulus | 69/2311 | 331/18723 | 7.36e-06 | 1.73e-04 | 69 |
GO:01040048 | Cervix | CC | cellular response to environmental stimulus | 69/2311 | 331/18723 | 7.36e-06 | 1.73e-04 | 69 |
GO:00714798 | Cervix | CC | cellular response to ionizing radiation | 22/2311 | 72/18723 | 3.47e-05 | 5.60e-04 | 22 |
GO:00093149 | Cervix | CC | response to radiation | 86/2311 | 456/18723 | 3.50e-05 | 5.63e-04 | 86 |
GO:00070646 | Cervix | CC | mitotic sister chromatid cohesion | 12/2311 | 28/18723 | 5.47e-05 | 8.06e-04 | 12 |
GO:00459277 | Cervix | CC | positive regulation of growth | 53/2311 | 259/18723 | 1.33e-04 | 1.64e-03 | 53 |
GO:00714786 | Cervix | CC | cellular response to radiation | 41/2311 | 186/18723 | 1.41e-04 | 1.71e-03 | 41 |
GO:00165705 | Cervix | CC | histone modification | 84/2311 | 463/18723 | 1.70e-04 | 2.01e-03 | 84 |
GO:00459955 | Cervix | CC | regulation of embryonic development | 19/2311 | 64/18723 | 1.78e-04 | 2.09e-03 | 19 |
GO:00340864 | Cervix | CC | maintenance of sister chromatid cohesion | 7/2311 | 12/18723 | 1.94e-04 | 2.24e-03 | 7 |
GO:00340884 | Cervix | CC | maintenance of mitotic sister chromatid cohesion | 7/2311 | 12/18723 | 1.94e-04 | 2.24e-03 | 7 |
GO:00102126 | Cervix | CC | response to ionizing radiation | 34/2311 | 148/18723 | 2.23e-04 | 2.53e-03 | 34 |
GO:00610089 | Cervix | CC | hepaticobiliary system development | 34/2311 | 150/18723 | 2.92e-04 | 3.14e-03 | 34 |
GO:00486386 | Cervix | CC | regulation of developmental growth | 61/2311 | 330/18723 | 7.69e-04 | 6.85e-03 | 61 |
GO:00310565 | Cervix | CC | regulation of histone modification | 33/2311 | 152/18723 | 7.97e-04 | 7.00e-03 | 33 |
GO:00987275 | Cervix | CC | maintenance of cell number | 30/2311 | 134/18723 | 7.98e-04 | 7.00e-03 | 30 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa041106 | Cervix | CC | Cell cycle | 36/1267 | 157/8465 | 4.94e-03 | 1.67e-02 | 9.86e-03 | 36 |
hsa0411013 | Cervix | CC | Cell cycle | 36/1267 | 157/8465 | 4.94e-03 | 1.67e-02 | 9.86e-03 | 36 |
hsa04110 | Colorectum | FAP | Cell cycle | 37/1404 | 157/8465 | 1.44e-02 | 4.77e-02 | 2.90e-02 | 37 |
hsa041101 | Colorectum | FAP | Cell cycle | 37/1404 | 157/8465 | 1.44e-02 | 4.77e-02 | 2.90e-02 | 37 |
hsa041109 | Esophagus | HGIN | Cell cycle | 38/1383 | 157/8465 | 6.70e-03 | 4.37e-02 | 3.47e-02 | 38 |
hsa0411016 | Esophagus | HGIN | Cell cycle | 38/1383 | 157/8465 | 6.70e-03 | 4.37e-02 | 3.47e-02 | 38 |
hsa0411023 | Esophagus | ESCC | Cell cycle | 126/4205 | 157/8465 | 1.34e-15 | 5.60e-14 | 2.87e-14 | 126 |
hsa0411033 | Esophagus | ESCC | Cell cycle | 126/4205 | 157/8465 | 1.34e-15 | 5.60e-14 | 2.87e-14 | 126 |
hsa041104 | Liver | Cirrhotic | Cell cycle | 61/2530 | 157/8465 | 9.53e-03 | 3.21e-02 | 1.98e-02 | 61 |
hsa0411011 | Liver | Cirrhotic | Cell cycle | 61/2530 | 157/8465 | 9.53e-03 | 3.21e-02 | 1.98e-02 | 61 |
hsa041102 | Liver | HCC | Cell cycle | 106/4020 | 157/8465 | 2.54e-07 | 3.04e-06 | 1.69e-06 | 106 |
hsa041103 | Liver | HCC | Cell cycle | 106/4020 | 157/8465 | 2.54e-07 | 3.04e-06 | 1.69e-06 | 106 |
hsa041105 | Lung | IAC | Cell cycle | 30/1053 | 157/8465 | 1.03e-02 | 3.83e-02 | 2.54e-02 | 30 |
hsa0411012 | Lung | IAC | Cell cycle | 30/1053 | 157/8465 | 1.03e-02 | 3.83e-02 | 2.54e-02 | 30 |
hsa041108 | Oral cavity | OSCC | Cell cycle | 118/3704 | 157/8465 | 7.15e-16 | 2.66e-14 | 1.35e-14 | 118 |
hsa0411015 | Oral cavity | OSCC | Cell cycle | 118/3704 | 157/8465 | 7.15e-16 | 2.66e-14 | 1.35e-14 | 118 |
hsa0411041 | Oral cavity | EOLP | Cell cycle | 42/1218 | 157/8465 | 3.20e-05 | 1.61e-04 | 9.52e-05 | 42 |
hsa0411051 | Oral cavity | EOLP | Cell cycle | 42/1218 | 157/8465 | 3.20e-05 | 1.61e-04 | 9.52e-05 | 42 |
hsa0411061 | Oral cavity | NEOLP | Cell cycle | 37/1112 | 157/8465 | 2.29e-04 | 1.58e-03 | 9.95e-04 | 37 |
hsa0411071 | Oral cavity | NEOLP | Cell cycle | 37/1112 | 157/8465 | 2.29e-04 | 1.58e-03 | 9.95e-04 | 37 |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
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TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
∗The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression. |
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Somatic mutation of malignant transformation related genes |
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Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
NIPBL | SNV | Missense_Mutation | rs762097133 | c.2035N>A | p.Ser679Thr | p.S679T | Q6KC79 | protein_coding | tolerated_low_confidence(0.75) | benign(0) | TCGA-BR-7707-01 | Stomach | stomach adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
NIPBL | SNV | Missense_Mutation | rs80358380 | c.5366N>A | p.Arg1789Gln | p.R1789Q | Q6KC79 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-BR-7851-01 | Stomach | stomach adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
NIPBL | SNV | Missense_Mutation | novel | c.37N>A | p.Leu13Ile | p.L13I | Q6KC79 | protein_coding | deleterious(0) | probably_damaging(0.967) | TCGA-BR-8487-01 | Stomach | stomach adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
NIPBL | SNV | Missense_Mutation | c.4542N>C | p.Glu1514Asp | p.E1514D | Q6KC79 | protein_coding | tolerated(0.24) | benign(0) | TCGA-BR-8589-01 | Stomach | stomach adenocarcinoma | Male | <65 | III/IV | Unknown | Unknown | SD | |
NIPBL | SNV | Missense_Mutation | c.649N>C | p.Asn217His | p.N217H | Q6KC79 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.991) | TCGA-BR-8680-01 | Stomach | stomach adenocarcinoma | Male | <65 | III/IV | Chemotherapy | oxaliplatin | CR | |
NIPBL | SNV | Missense_Mutation | c.5681G>A | p.Arg1894His | p.R1894H | Q6KC79 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-CG-5721-01 | Stomach | stomach adenocarcinoma | Male | <65 | III/IV | Unknown | Unknown | SD | |
NIPBL | SNV | Missense_Mutation | c.4907N>A | p.Arg1636His | p.R1636H | Q6KC79 | protein_coding | tolerated(0.07) | possibly_damaging(0.851) | TCGA-CG-5723-01 | Stomach | stomach adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
NIPBL | SNV | Missense_Mutation | c.5076G>A | p.Met1692Ile | p.M1692I | Q6KC79 | protein_coding | tolerated(0.34) | benign(0) | TCGA-D7-6525-01 | Stomach | stomach adenocarcinoma | Male | <65 | III/IV | Chemotherapy | PD | ||
NIPBL | SNV | Missense_Mutation | c.6365G>A | p.Ser2122Asn | p.S2122N | Q6KC79 | protein_coding | tolerated(0.5) | benign(0.04) | TCGA-F1-6177-01 | Stomach | stomach adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
NIPBL | SNV | Missense_Mutation | rs756257801 | c.1439N>C | p.Ile480Thr | p.I480T | Q6KC79 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.966) | TCGA-F1-6874-01 | Stomach | stomach adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
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Related drugs of malignant transformation related genes |
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(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
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